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rs28940883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0
Make rs28940883(A;G)
Make rs28940883(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23798160
GeneGALE
is asnp
is mentioned by
dbSNPrs28940883
ebirs28940883
HLIrs28940883
Exacrs28940883
Varsomers28940883
Maprs28940883
PheGenIrs28940883
hapmaprs28940883
1000 genomesrs28940883
hgdprs28940883
ensemblrs28940883
gopubmedrs28940883
geneviewrs28940883
scholarrs28940883
googlers28940883
pharmgkbrs28940883
gwascentralrs28940883
openSNPrs28940883
23andMers28940883
23andMe allrs28940883
SNP Nexus

SNPshotrs28940883
SNPdbers28940883
MSV3drs28940883
GWAS Ctlgrs28940883
Max Magnitude0
OMIM606953
DescGALACTOSE EPIMERASE DEFICIENCY
Variant0004
Relatedalso
Neighborrs28940882
Distance39


ClinVar
Risk rs28940883(G;G)
Alt rs28940883(G;G)
Reference rs28940883(A;A)
Significance Pathogenic
Disease UDPglucose-4-epimerase deficiency
Variation info
Gene GALE
CLNDBN UDPglucose-4-epimerase deficiency
Reversed 1
HGVS NC_000001.10:g.24124650T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003863.2,